Quantitative Volumetric Analysis of the Brain Using Magnetic Resonance Imaging in Sickle Cell Anaemia.

BACKGROUND

Sickle cell disease (SCD) is a group of inherited hemoglobinopathies caused by a mutation in the β-globin gene, with sickle cell anaemia (SCA) representing the homozygous and most severe form. The disease burden is highest in sub-Saharan Africa, India, and the Mediterranean region. Neurological complications, including overt stroke and silent cerebral infarcts (SCI), contribute significantly to morbidity, with a markedly increased risk observed among affected individuals. The objective of the study is to assess and compare brain gray matter and white matter volumes in patients with sickle cell anaemia with and without silent cerebral infarcts, and in healthy controls.

METHODOLOGY: This cross-sectional study included 264 participants divided into three groups: SCA patients with SCI, SCA patients without SCI, and age- and sex-matched healthy controls. All participants underwent brain magnetic resonance imaging using a 1.5 Tesla scanner. Image segmentation and volumetric analysis were performed using the Computational Anatomy Toolbox (CAT12).

RESULTS

White matter volume was significantly reduced in SCA patients, both with and without SCI, compared to controls. Gray matter volume was significantly increased in SCA patients, particularly among those without SCI, relative to controls.

CONCLUSION

Sickle cell anaemia is associated with significant reductions in white matter volume and alterations in gray matter volume, highlighting the impact of the disease on brain structure even in the absence of overt neurological deficits.